Variant #0000687299 (NC_000007.13:g.92147046_92147047del, PEX1(NM_000466.2):c.782_783del)

Individual ID 00310627
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.92147046_92147047del
DNA change (hg38) g.92517732_92517733del
Published as 1714_1715delCA
ISCN -
DB-ID PEX1_000062 See all 6 reported entries
Variant remarks -
Reference PubMed: Yik 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 +/. 5 c.782_783del r.(?) p.(Gln261Argfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311779 DNA SEQ - - PEX1 2 Johan den Dunnen